MEN1

Chr 11q13.1

menin 1

MANE:: ENST00000450708.7

OMIM: 613733 ↗NCBI: 4221 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MEN1 · O00255

v62025-08-01

Predicted Aligned Error matrix for MEN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.4/ 100

Confident

610 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Additional findings health related
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Additional findings health related - children
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Additional findings health related - CNV analysis children
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Endocrine neoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+8 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

multiple endocrine neoplasia type 1
0.87
multiple endocrine neoplasia
0.66
Angiofibroma
0.64
hyperparathyroidism
0.64
lung carcinoid tumor
0.62
Inherited cancer-predisposing syndrome
0.58
hereditary neoplastic syndrome
0.57
parathyroid gland adenoma
0.56
endocrine gland neoplasm
0.56
primary hyperparathyroidism
0.56

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Menin

Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair